Source: CURATED ×
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0005940
Disease: Bone Diseases
Bone Diseases 		group Musculoskeletal Diseases Disease or Syndrome 10 0.310 None 1.000 2 2011 2016
CUI: C0751213
Disease: Tactile Allodynia
Tactile Allodynia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 84 0.300 None 1.000 1 2008 2008
CUI: C0751211
Disease: Hyperalgesia, Primary
Hyperalgesia, Primary 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 84 0.300 None 1.000 1 2008 2008
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
Hereditary Motor and Sensory Neuropathy Type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 8 84 0.300 None 1.000 1 2012 2012
CUI: C0562557
Disease: Sexually disinhibited behavior
Sexually disinhibited behavior 		phenotype Finding 1 0.300 limited 1.000 1 2012 2012
CUI: C0458247
Disease: Allodynia
Allodynia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 84 0.300 None 1.000 1 2008 2008
CUI: C0432272
Disease: Van Buchem disease
Van Buchem disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 17 0.300 None 1.000 1 2008 2008
CUI: C0410480
Disease: Avascular Necrosis of Femur Head
Avascular Necrosis of Femur Head 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 3 0.500 None 1.000 1 2016 2016
CUI: C0393547
Disease: Bulbospinal Neuronopathy
Bulbospinal Neuronopathy 		disease Nervous System Diseases Disease or Syndrome 4 0.300 None 1.000 1 2012 2012
CUI: C0393546
Disease: Oculopharyngeal Spinal Muscular Atrophy
Oculopharyngeal Spinal Muscular Atrophy 		disease Nervous System Diseases Disease or Syndrome 3 0.300 None 1.000 1 2012 2012
CUI: C0393541
Disease: Distal Spinal Muscular Atrophy
Distal Spinal Muscular Atrophy 		disease Nervous System Diseases Disease or Syndrome 4 3 0.350 None 1.000 1 2003 2020
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 13 138 0.320 None 1.000 1 1997 2020
CUI: C0751214
Disease: Hyperalgesia, Thermal
Hyperalgesia, Thermal 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 84 0.300 None 1.000 1 2008 2008
CUI: C0751226
Disease: Hypersomnia, Recurrent
Hypersomnia, Recurrent 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 1 0.300 limited 1.000 1 2012 2012
CUI: C4551562
Disease: AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1 		disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 2 6 0.300 None 1.000 1 2016 2016
CUI: C4551479
Disease: Schwartz-Jampel Syndrome, Type 1
Schwartz-Jampel Syndrome, Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 16 2 0.300 None 1.000 1 2008 2008
CUI: C3711162
Disease: Metatropic Dysplasia Type 1
Metatropic Dysplasia Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2010 2010
CUI: C3661519
Disease: Hereditary Motor Neuronopathy
Hereditary Motor Neuronopathy 		disease Nervous System Diseases Disease or Syndrome 3 0.300 None 1.000 1 2012 2012
CUI: C3541456
Disease: Spondyloepiphyseal Dysplasia Tarda, X-Linked
Spondyloepiphyseal Dysplasia Tarda, X-Linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 16 3 0.300 None 1.000 1 2008 2008
CUI: C4552810
Disease: Irritability, CTCAE
Irritability, CTCAE 		phenotype Finding 1 0.300 limited 1.000 1 2012 2012
CUI: C2936719
Disease: Mechanical Allodynia
Mechanical Allodynia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 84 0.380 None 1.000 1 2007 2019
CUI: C2700617
Disease: Irritation - emotion
Irritation - emotion 		phenotype Behavior and Behavior Mechanisms Mental Process 1 14 0.300 limited 1.000 1 2012 2012
CUI: C1527303
Disease: Chronic Airflow Obstruction
Chronic Airflow Obstruction 		disease Respiratory Tract Diseases Disease or Syndrome 33 0.300 None 1.000 1 2011 2011
CUI: C0917981
Disease: Progressive Muscular Atrophy
Progressive Muscular Atrophy 		disease Nervous System Diseases Disease or Syndrome 3 0.300 None 1.000 1 2012 2012
CUI: C0751334
Disease: Progressive Proximal Myelopathic Muscular Atrophy
Progressive Proximal Myelopathic Muscular Atrophy 		disease Nervous System Diseases Disease or Syndrome 3 0.300 None 1.000 1 2012 2012